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Dystonia, Early Onset Primary (DYT1)
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory
GTR Test Accession: Help GTR000508936.6
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2023-09-06
View version history
Last annual review date for the lab: 2023-09-06 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Conditions (1): Help
Early-onset generalized limb-onset dystonia
Genes (1): Help
TOR1A (9q34.11)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
Not provided
Clinical validity: Help
This test detects only the common TOR1A trinucleotide deletion. This …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • View specimen requirements
Lab contact: Help
Molecular Genetics Laboratory, Laboratory Contact
moleculargenetics@cw.bc.ca
604-875-2852
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Currently, samples are only accepted from residents of Canada.
Please use the General Requisition form on our website.
Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Clinical validity: Help
This test detects only the common TOR1A trinucleotide deletion. This deletion is seen in > 99% of cases of familial early onset primary dystonia. The mutation has been reported in 72% of patients with early onset generalized dystonia, 13% of patients with unclassified movement disorders, and only 1% of patients … View more
Recommended fields not provided:
Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test detects only the common TOR1A trinucleotide deletion. This deletion is seen in > 99% of cases of familial early onset primary dystonia. The mutation has been reported in 72% of patients with early onset generalized dystonia, 13% of patients with unclassified movement disorders, and only 1% of patients … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.